Canonical Allele Identifier: CA020617

Gene: TGFBR2

Linked Data

• ClinVar Variation Id: 44651
• ClinVar RCV Id: RCV000037728 ; RCV000148893 ; RCV000249404 ; RCV000288248 ; RCV000345619 ; RCV000509502 ; RCV000768109 ; RCV001094865 ; RCV001703884 ; RCV002277125 ; RCV003224121 ; RCV003904922
• dbSNP Id: rs35766612
• ExAC: 3:30713834 G / A
• gnomAD v2: 3-30713834-G-A
• gnomAD v3: 3-30672342-G-A
• gnomAD v4: 3-30672342-G-A
• MyVariant Identifiers: chr3:g.30713834G>A (hg19) ; chr3:g.30672342G>A (hg38)
• PubMed: PMID:11212236 ; PMID:16791849 ; PMID:16928994 ; PMID:17319955 ; PMID:17344846 ; PMID:17935258 ; PMID:18781618 ; PMID:21524434 ; PMID:23074336 ; PMID:24055113 ; PMID:24793577 ; PMID:24941995

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30672342G>A , CM000665.2:g.30672342G>A	GRCh38
NC_000003.11:g.30713834G>A , CM000665.1:g.30713834G>A	GRCh37
NC_000003.10:g.30688838G>A	NCBI36
NG_007490.1:g.70841G>A , LRG_779:g.70841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.1159G>A MANE Select	ENSP00000295754.5:p.Val387Met
ENST00000672866.1:n.2755G>A
ENST00000295754.9:c.1159G>A	ENSP00000295754.5:p.Val387Met
ENST00000359013.4:c.1234G>A	ENSP00000351905.4:p.Val412Met
NM_001024847.2:c.1234G>A , LRG_779t1:c.1234G>A	NP_001020018.1:p.Val412Met
NM_003242.5:c.1159G>A	NP_003233.4:p.Val387Met
XM_011534043.1:c.1186G>A	XP_011532345.1:p.Val396Met
XM_011534044.1:c.1111G>A	XP_011532346.1:p.Val371Met
XM_011534045.1:c.1054G>A	XP_011532347.1:p.Val352Met
XM_011534043.2:c.1186G>A	XP_011532345.1:p.Val396Met
XM_011534045.3:c.1054G>A	XP_011532347.1:p.Val352Met
XM_017007106.1:c.1054G>A	XP_016862595.1:p.Val352Met
NM_003242.6:c.1159G>A MANE Select	NP_003233.4:p.Val387Met